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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP2U1

Variant:p.L394V

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CYP2U1

NM_183075.3:p.L394V

hg38:chr4:107947429 C>G

Associated Papers

Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study.

Schiavoni S et al.

Developmental Medicine and Child Neurology, 2020

32277485 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."